Rare Disease Library

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

Acro-renal-ocular syndrome

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

Acropectorovertebral dysplasia

F syndrome

Acrorenal syndrome

Adrenal Cushing syndrome

Adrenal CS

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

C syndrome

OTCS · Opitz C trigonocephaly

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Complex regional pain syndrome

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

H syndrome

Hemorrhagic fever-renal syndrome

Hantavirosis · Hantavirus fever

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Mills syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

N syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Osteosclerotic bone dysplasia

Raine syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome